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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for HEXA (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3073
Official gene symbolHEXA
Full namehexosaminidase A (alpha polypeptide)
Aliases,MGC99608,TSD,
Gene summaryThis gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq]
LocationChromosome: 15   Locus: 15q23-q24
Gene position72668520 - 72635778  Map Viewer
Gene orientationminus
Gene size32743 bp
Gene sequence
OMIM ID606869